SNRPE

Chr 1q32.1

small nuclear ribonucleoprotein polypeptide E

Aliases:: Sm-E
MANE:: ENST00000414487.7

OMIM: 128260 ↗NCBI: 6635 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SNRPE · P62304

v62025-08-01

Predicted Aligned Error matrix for SNRPE — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.8/ 100

Very high

92 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)5%
Low(50–70)11%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic hypotrichosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

hypotrichosis simplex
0.67
Parkinson disease
0.46
lysosomal storage disease
0.46
Alzheimer disease
0.46
neurodegenerative disease
0.46
multiple sclerosis
0.46
dengue disease
0.37
long QT syndrome 1
0.27
infection
0.03
adrenal cortex carcinoma
0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Small nuclear ribonucleoprotein E

Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:23246290, PubMed:23333303, PubMed:25555158, PubMed:26912367, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:32494006). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (PubMed:11991638, PubMed:28076346, PubMed:28502770, PubMed:28781166). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077). As part of the U7 snRNP it is involved in histone 3'-end processing (PubMed:12975319)